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Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known(More)
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial(More)
OBJECTIVE To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis. DESIGN AND METHODS A large consanguineous Pakistani family containing six subjects with autosomal recessive complete achromatopsia was ascertained. After excluding linkage to the two known achromatopsia genes (CNGA3 and CNGB3), a(More)
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three(More)
H ypoparathyroidism is a heterogeneous group of disorders with both acquired and inherited causes, each presenting clinically with hypocalcaemia. Familial cases of hypoparathyroidism may be due to an isolated defect of the parathyroid glands or be a component of a syndrome disorder, examples of which include DiGeorge,(More)
“Physicians consider that when they have discovered the cause of disease, they have also discovered the method of treating it.” Cicero, Tusculan Disputations, III.x.23. In the last few years, the exciting realisation in the field of gene regulation is that transcription factors can function by recruiting large, multiprotein complexes which mediate several(More)
H ypoparathyroidism is a heterogeneous group of disorders with both acquired and inherited causes, each presenting clinically with hypocalcaemia. Familial cases of hypoparathyroidism may be due to an isolated defect of the parathyroid glands or be a component of a syndrome disorder, examples of which include DiGeorge,(More)